Human | BMND8 | 100188854 | bone mineral density quantiative trait locus 8 | INFERRED, Score=800, UMLKSK CUI: C0029456 |
Human | BMND7 | 100188853 | bone mineral density quantiative trait locus 7 | INFERRED, Score=800, UMLKSK CUI: C0029456 |
Human | THSD7A | 221981 | thrombospondin, type I, domain containing 7A | Variations may be important determinants of osteoporosis in Japanese women |
Human | ANTXR2 | 118429 | anthrax toxin receptor 2 | |
Human | SLC22A11 | 55867 | solute carrier family 22 (organic anion/urate transporter), member 11 | The present study demonstrates that hOAT4 variants can causing inter-individual variation in anionic drug uptake and, therefore, could be used as markers for certain diseases including osteoporosis |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | BMP2K | 55589 | BMP2 inducible kinase | The association of the BMP-2 gene polymorphisms Ser37Ala and Arg190Ser with osteoporosis in 6353 men and women from the Rotterdam Study was studied |
Human | SOST | 50964 | sclerostin | SOST-LRP5 antagonistic interaction plays a central role in bone mass regulation and may represent a nodal point for therapeutic intervention for osteoporosis and other bone diseases |
Human | PDE11A | 50940 | phosphodiesterase 11A | |
Human | IL1F6 | 27179 | interleukin 36, alpha | INFERRED, Score=800, UMLKSK CUI: C0029456 |
Human | QPCT | 25797 | glutaminyl-peptide cyclotransferase | Genetic variations in QPCT are important factors affecting the bone mineral density of adult women that contribute to susceptibility for osteoporosis |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | Title:Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.|Association:Not Found|Conclusion:In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis. The remaining five cases were heterozygous for a ClCN7 mutation, including two brothers from a large family with a history of ADO-II in which the presence of a second ClCN7 mutation was formally excluded. Despite an early and severe clinical presentation, these five patients all reached adulthood, suggesting that the degree of dominant interference with chloride channel function can vary widely. Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to nearly asymptomatic forms. These findings have prognostic implications, might complicate prenatal diagnosis of human osteopetroses, and could be relevant to the management of these patients. |
Human | EIF2AK3 | 9451 | eukaryotic translation initiation factor 2-alpha kinase 3 | |
Human | RECQL4 | 9401 | RecQ protein-like 4 | |
Human | SLC9A3R1 | 9368 | solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 | |
Human | SLC7A7 | 9056 | solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 | |
Human | AIP | 9049 | aryl hydrocarbon receptor interacting protein | |
Human | IRS2 | 8660 | insulin receptor substrate 2 | Altered osteoblast proliferation in human osteoporosis may result from dysregulation of IGF-I receptor signaling, including constitutive activation of the IRS-2/Erk signaling pathway |
Human | TNFSF11 | 8600 | tumor necrosis factor (ligand) superfamily, member 11 | Sickle cell/beta-thalassemiapatients may develop osteopenia/osteoporosis mainly due to marrow expansion, in which RANKL may be involved Review highlights the discovery of receptor activator of nuclear factor-kappa B ligand (RANKL) as a pivotal regulator of osteoclast activity and how its inhibition provides a new therapeutic target in osteoporosis |
Human | PDLIM4 | 8572 | PDZ and LIM domain 4 | RIL and its variant sequences may be an important determinant of osteoporosis |
Human | WRN | 7486 | Werner syndrome, RecQ helicase-like | |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | Click here to display 8 evidence detail records. |
Human | UGT2B17 | 7367 | UDP glucuronosyltransferase 2 family, polypeptide B17 | Genome-wide copy-number variation identified a susceptibility gene, UGT2B17, for osteoporosis |
Human | TRAF6 | 7189 | TNF receptor-associated factor 6, E3 ubiquitin protein ligase | Sequencing of the promoter region and exons of the TRAF6 gene revealed three sequence variants, one of which was found in three affected members within one family with osteoporosis |